Results 31 to 40 of about 122,711 (274)
Animals, 2020 The purpose of this study was to explore functional variants in the prosaposin (PSAP) three prime untranslated region (3’ UTR) and clarify the relationship between the variants and morphological traits.
Haidong Zhao +6 more
doaj +1 more source
Minimum error correction-based haplotype assembly: considerations for long read data [PDF]
, 2018 The single nucleotide polymorphism (SNP) is the most widely studied type of genetic variation. A haplotype is defined as the sequence of alleles at SNP sites on each haploid chromosome. Haplotype information is essential in unravelling the genome-phenotype association.
arxiv +1 more source
Human Mutation, Volume 43, Issue 12, Page 1921-1944, December 2022., 2022 Abstract Skipping of BRCA2 exon 3 (∆E3) is a naturally occurring splicing event, complicating clinical classification of variants that may alter ∆E3 expression. This study used multiple evidence types to assess pathogenicity of 85 variants in/near BRCA2 exon 3.
Mads Thomassen +49 more
wiley +1 more source
Reliable reconstruction of HIV-1 whole genome haplotypes reveals clonal interference and genetic hitchhiking among immune escape variants [PDF]
Retrovirology, 2014, 11:56, 2013 Following transmission, HIV-1 evolves into a diverse population, and next generation sequencing enables us to detect variants occurring at low frequencies. Studying viral evolution at the level of whole genomes was hitherto not possible because next generation sequencing delivers relatively short reads.
arxiv +1 more source
Destabilization of mutated human PUS3 protein causes intellectual disability
Human Mutation, Volume 43, Issue 12, Page 2063-2078, December 2022., 2022 The homodimer of pseudouridine synthase 3 converts uridines at position 39 in tRNAs to pseudouridine (ψ), which affects tRNA stability and regulates RNA–protein interactions. Several patient‐derived variants of PUS3 have been associated with neurodegenerative diseases.
Ting‐Yu Lin +17 more
wiley +1 more source
Human Mutation, Volume 43, Issue 12, Page 2170-2186, December 2022., 2022 Abstract The standardization of variant curation criteria is essential for accurate interpretation of genetic results and clinical care of patients. The variant curation guidelines developed by the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) in 2015 are widely used but are not gene specific.
Kathryn P. Burdon +14 more
wiley +1 more source
Genetics and Molecular Biology, 2006 Hemoglobinopathies are the most common monogenic disorders worldwide; however, they have never been systematically studied from a genetic perspective in Uruguay. In this study, we determined the frequencies of hemoglobin variants in Afro-Uruguayans.
Julio A. da Luz +5 more
doaj +1 more source
Systemic circulating microRNA landscape in Lynch syndrome
International Journal of Cancer, Volume 152, Issue 5, Page 932-944, 1 March 2023., 2023 What's new? Systemic circulating microRNA expression patterns (c‐miRnomes) are altered during sporadic carcinogenesis and they have predictive potential in early cancer detection. However, their potential in carriers of inherited pathogenic mismatch‐repair gene variants associated with Lynch syndrome remains understudied.
Tero Sievänen +10 more
wiley +1 more source
G3: Genes, Genomes, Genetics, 2019 Evolve-and-resequence (E+R) experiments leverage next-generation sequencing technology to track the allele frequency dynamics of populations as they evolve.
Susanne Tilk +5 more
doaj +1 more source
Matrix Completion and Performance Guarantees for Single Individual Haplotyping [PDF]
IEEE Transactions on Signal Processing 2019, 2018 Single individual haplotyping is an NP-hard problem that emerges when attempting to reconstruct an organism's inherited genetic variations using data typically generated by high-throughput DNA sequencing platforms. Genomes of diploid organisms, including humans, are organized into homologous pairs of chromosomes that differ from each other in a ...
arxiv +1 more source